Results 11 to 20 of about 565,458 (146)

Clinical and electroencephalogram characteristics of methylmalonic acidemia with MMACHC and MUT gene mutations [PDF]

BMC Pediatrics
Objective This study investigated the clinical, imaging, and electroencephalogram (EEG) characteristics of methylmalonic acidemia (MMA) with nervous system damage as the primary manifestation.
Yujun Yuan, Ying Ma, Qiong Wu, Liang Huo, Chun-Feng Liu, Xueyan Liu   +5 more
doaj   +2 more sources

Gene identification for the cblD defect of vitamin B12 metabolism [PDF]

, 2008
Background Vitamin B12 (cobalamin) is an essential cofactor in several metabolic pathways. Intracellular conversion of cobalamin to its two coenzymes, adenosylcobalamin in mitochondria and methylcobalamin in the cytoplasm, is necessary for the ...
Rosenblatt, D S, Suormala, T, Stucki, M, Newbold, R F, Coelho, D, Fowler, B, Lerner-Ellis, J P   +6 more
core   +7 more sources

Evaluation of a Targeted LC-MS/MS Assay for Clinical Quantification of Urinary Organic Acids. [PDF]

J Mass Spectrom
ABSTRACT Gas chromatography–mass spectrometry (GC–MS) is the reference method for urine organic acid analysis but requires complex sample preparation and derivatization, limiting routine clinical use. We developed and validated a targeted Liquid chromatography–tandem mass spectrometry (LC–MS/MS) method for quantifying urinary organic acids relevant to ...
Daniel EJP, Garnett E, Rajapakshe D, Devaraj S.   +3 more
europepmc   +2 more sources

Effect of Bite-Sized Teaching Sessions on Mothers’ Care of Their Children with Methylmalonic Acidemia [PDF]

Egyptian Journal of Health Care, 2021
Background: Methylmalonic acidemia (MMA) is a metabolic disease in which proper dietary treatment may benefit pediatric patients' growth and development.
Rehab Hanie Elkazaz, Hoda Wahid Amer, Fatma Mohamed Mohamed   +2 more
doaj   +1 more source

Brain Magnetic Resonance Imaging in Organic Acidemias: A Single Center Experience [PDF]

Pediatric Sciences Journal (Egypt), 2023
Background: Organic acidemias (OAs) are a group of inherited diseases with a defect of amino acid metabolism, unless treatment is initiated early in life, they cause serious central nervous system (CNS) complications as seizures, encephalopathy and ...
Mohamed F. Ibrahim Marian Y. Girgis, Marian Y. Girgis, Sara I. Nassar, Hadeel M. Seif , Sara M. Kamel, Mona A. Kamel   +5 more
doaj   +1 more source

Effectiveness of instructional guidelines implementation on mothers' knowledge and practice regarding their children with methylmalonic acidemia [PDF]

, 2021
Methylmalonic Acidemia (MMA) is a group of inborn errors of metabolism (IEMs), specifically of propionate catabolism characterized by gastrointestinal and neurometabolic manifestations resulting from a deficiency in the function of methyl malonyl-CoA ...
Ayed, Manal Mohamed Ahmed, Amin, Fatma Mohamed, Mahmoud, Naglaa Fathi, Manal Mohamed Ahmed Ayed, Naglaa Fathi Mahmoud, Fatma Mohamed Amin   +5 more
core   +1 more source

Nutritional Management in Severe Methylmalonic and Propionic Acidemias: How Much Medical Food Is Too Much? [PDF]

J Inherit Metab Dis
ABSTRACT Methylmalonic acidemia (MMA) and propionic acidemia (PA) are inherited metabolic disorders affecting valine and isoleucine catabolism. Long‐term therapy mainly involves dietary protein restriction. An amino acid mixture (AAM, medical food) free of the precursor amino acids is frequently used, especially when protein intake does not reach World
Margoses D, Imbard A, Pontoizeau C, Brassier A, Arnoux JB, Bouchereau J, Bérat CM, Assoun M, Belloche C, Dewulf S, Dubois S, Samba B, Servais A, Dao M, Le Guillou E, de Colnet A, Ottolenghi C, de Lonlay P, Benoist JF, Schiff M.   +19 more
europepmc   +2 more sources

Brain Imaging Findings of Methylmalonic Academia in 56 Children [PDF]

Pediatric Research, 2011
Background and aims: Methylmalonic acidemia (MMA) is an autosomal- recessive inborn error of organic acid metabolism and caused by an L-methylmalonyl-CoA mutase deficiency. Patients often present with neurological symptoms. We describe the CT and MR brain sectional imaging findings in children with MMA and discuss related pathophysiological mechanisms.
Y Liu, Y Peng, J Yin, Q G Sun
openaire   +1 more source

Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial

Orphanet Journal of Rare Diseases, 2021
Background Propionic acidemia (PA) and methylmalonic acidemia (MMA) are rare, autosomal recessive inborn errors of metabolism that require life-long medical treatment.
Majid Alfadhel, Marwan Nashabat, Mohammed Saleh, Mohammed Elamin, Ahmed Alfares, Ali Al Othaim, Muhammad Umair, Hind Ahmed, Faroug Ababneh, Fuad Al Mutairi, Wafaa Eyaid, Abdulrahman Alswaid, Lina Alohali, Eissa Faqeih, Mohammed Almannai, Majed Aljeraisy, Bayan Albdah, Mohamed A. Hussein, Zuhair Rahbeeni, Ali Alasmari   +19 more
doaj   +1 more source

Value of amniotic fluid homocysteine assay in prenatal diagnosis of combined methylmalonic acidemia and homocystinuria, cobalamin C type

Orphanet Journal of Rare Diseases, 2021
Background Combined methylmalonic acidemia and homocystinuria, cobalamin C type (cblC defect) is the most common inborn error of cobalamin metabolism, and different approaches have been applied to its prenatal diagnosis.
Ting Chen, Lili Liang, Huiwen Zhang, Jun Ye, Wenjuan Qiu, Bing Xiao, Hong Zhu, Lei Wang, Feng Xu, Zhuwen Gong, Xuefan Gu, Lianshu Han   +11 more
doaj   +1 more source